ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001113 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000937 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847715T>G , CM000678.2:g.8847715T>G | GRCh38 |
| NC_000016.9:g.8941572T>G , CM000678.1:g.8941572T>G | GRCh37 |
| NC_000016.8:g.8849073T>G | NCBI36 |
| NG_009209.1:g.54903T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3808-9T>G | ||
| ENST00000682393.1:c.*258-1654T>G | ENSP00000506774.1:n.*258-1654T>G | |
| ENST00000683094.1:c.*262-1654T>G | ENSP00000508230.1:n.*262-1654T>G | |
| ENST00000683274.1:c.*180-1654T>G | ENSP00000507262.1:n.*180-1654T>G | |
| ENST00000683435.1:c.*536-9T>G | ENSP00000508092.1:n.*536-9T>G | |
| ENST00000268261.9:c.640-9T>G MANE Select | ENSP00000268261.4:n.640-9T>G | |
| ENST00000268261.8:c.640-9T>G | ENSP00000268261.4:n.640-9T>G | |
| ENST00000562025.1:n.174-9T>G | ||
| ENST00000562318.5:c.*362-9T>G | ENSP00000454395.1:n.*362-9T>G | |
| ENST00000565221.5:c.*258-9T>G | ENSP00000457932.1:n.*258-9T>G | |
| ENST00000566540.5:c.*262-9T>G | ENSP00000454284.1:n.*262-9T>G | |
| ENST00000566604.5:c.*180-9T>G | ENSP00000456774.1:n.*180-9T>G | |
| ENST00000566983.5:c.559-9T>G | ENSP00000457956.1:n.559-9T>G | |
| ENST00000567697.1:n.3808-9T>G | ||
| ENST00000569958.5:c.367-9T>G | ENSP00000456302.1:n.367-9T>G | |
| ENST00000570076.5:c.*98-9T>G | ENSP00000456961.1:n.*98-9T>G | |
| NM_000303.2:c.640-9T>G | NP_000294.1:n.640-9T>G | |
| XM_005255374.3:c.391-9T>G | XP_005255431.1:n.391-9T>G | |
| XM_011522538.1:c.640-7319T>G | XP_011520840.1:n.640-7319T>G | |
| XM_005255374.4:c.391-9T>G | XP_005255431.1:n.391-9T>G | |
| NM_000303.3:c.640-9T>G MANE Select | NP_000294.1:n.640-9T>G |